Studies will be carried out to increase the understanding of genetic control mechanisms in man, of the genetic regulation of differentiation and development, and of the diagnosis, management, and prevention of human genetic disorders. The specific projects will include the following: 1) Analysis of the biochemical consequences of aneuploidy carrying translocations with known enzyme markers. 2) Ultrastructural examination of genetically abnormal embryos. 3) Investigation of the endocrine and other manifestations of sex chromosome aberrations, including detailed examination of the chromosomes themselves. 4) Analysis of the genetic basis of the regulation of purine biosynthesis in cultured mammalian cells. 5) Investigation of the biochemical and pharmacologic parameters of new variant of Fabry's disease, a genetic disorder of man. 6) Examination of the mechanism of action of steroid hormones in genetic variants of lymphoma cells in culture. 7) Study of the processes which control differentiation of the pancreas. 8) Establishment of a central cell culture facility. 9) Investigation of clinical genetic problems. 10) Development of improved methods for prenatal detection of genetic and developmental disorders. 11) Improvement of methods for genetic counseling.